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Heterogeneous Diagnoses Underlying Radial Ray Anomalies
Rosalba Sevilla-Montoya1, Mónica Aguinaga2, Alejandro Martínez2
1Departamento de Genética, Instituto Nacional de Perinatología, Montes Urales 800 Col. Lomas Virreyes, C.P 11000, Torre de investigación 2°, Piso, Ciudad de México, CP 11000, Mexico. rosalbasevilla@hotmail.com.
Insights
Radial Ray Anomaly (RRA) in newborns has diverse causes, including genetic conditions like Fanconi anemia. Early diagnosis through genetic testing is crucial, as associated defects significantly increase perinatal mortality.
Area of Science:
- Perinatology
- Medical Genetics
- Developmental Biology
Background:
- Radial Ray Anomaly (RRA) is a congenital upper limb defect with varied etiologies.
- Understanding the spectrum of diagnoses associated with RRA is critical for perinatal care.
Purpose of the Study:
- To review perinatal RRA cases at a tertiary care center.
- To identify the heterogeneous diagnoses and outcomes in RRA patients.
Main Methods:
- Retrospective review of 15 RRA cases over 18 months.
- Prenatal and postnatal detection rates were analyzed.
- Karyotyping and chromosomal breakage analysis were performed for diagnostic evaluation.
Main Results:
- Fifteen RRA cases were identified with diverse diagnoses including trisomy 18, monogenic diseases, and Fanconi anemia.
- High perinatal mortality (47%) was observed, particularly in cases with multiple defects.
- Fanconi anemia was diagnosed in four RRA patients.
Conclusions:
- Comprehensive assessment including ultrasound, clinical, genetic, cytogenetic, and molecular testing is essential for RRA patients.
- Chromosome breakage testing is recommended to rule out Fanconi anemia in RRA cases.
- Early and accurate diagnosis impacts management and prognosis for RRA.
Objective:
To review perinatal Radial Ray Anomaly (RRA) cases born at the National Institute of Perinatology, Mexico, and to reveal the heterogeneous diagnoses of these patients.
Methods:
All patients with RRA over a 18 mo period were included; 4/15 were detected prenatally and 11/15 postnatally. Karyotype was performed for all patients with bilateral RRA; and chromosomal breakage analysis, when the karyotype was normal.
Results:
Fifteen RRA patients were identified: one with trisomy 18, three with an isolated defect, six with monogenic disease, four with a genetic association and one with diabetic embryopathy. Five were stillborn and two died during the early neonatal period; all of whom presented with multiple defects. Three of the live born patients and one stillborn with multiple defects had Fanconi anemia. RRAs carry a high perinatal mortality rate (47%) when they occur in association with other defects.
Conclusions:
The assessment of these patients needs to involve the combined use of ultrasound, clinical, genetic, cytogenetic and molecular testing. The present results indicate that the chromosome breakage test should always be performed to rule out Fanconi anemia in this group.
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